UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 296

Sortiert nach

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Genetics in medicine, 2016-10, Vol.18 (10), p.1056-1065

2016

Link zum Volltext

Verfügbarkeit prüfen

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2019-04, Vol.21 (4), p.769-771

2019

Link zum Volltext

Verfügbarkeit prüfen

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations

Genetics in medicine, 2019-10, Vol.21 (10), p.2285-2292

2019

Link zum Volltext

Verfügbarkeit prüfen

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2020-03, Vol.22 (3), p.462-474

2020

Link zum Volltext

Verfügbarkeit prüfen

Maternal obesity, folate intake, and neural tube defects in offspring

Birth defects research. A Clinical and molecular teratology, 2013-02, Vol.97 (2), p.115-122

2013

Link zum Volltext

Verfügbarkeit prüfen

Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree

Journal of international medical research, 2020-04, Vol.48 (4), p.300060519879293

2020

Link zum Volltext

Verfügbarkeit prüfen

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2023-02, Vol.25 (2), p.100336-100336, Article 100336

2023

Link zum Volltext

Verfügbarkeit prüfen

Long Term Maintenance of Neural Tube Defects Prevention in a High Prevalence State

The Journal of pediatrics, 2011-07, Vol.159 (1), p.143-149.e2

2011

Link zum Volltext

Verfügbarkeit prüfen

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2023-08, Vol.25 (8), p.100874-100874, Article 100874

2023

Link zum Volltext

Verfügbarkeit prüfen

International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies

Prenatal diagnosis, 2021-09, Vol.41 (10), p.1222-1232

2021

Link zum Volltext

Verfügbarkeit prüfen

Prenatal serum screening for Down syndrome and neural tube defects in the United States: Changes in utilization patterns from 2012 to 2020

Journal of medical screening, 2021-12, Vol.28 (4), p.405-410

2021

Link zum Volltext

Verfügbarkeit prüfen

Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2022-03, Vol.24 (3), p.509-511

2022

Link zum Volltext

Verfügbarkeit prüfen

On the launch of Genetics in Medicine Open: Disseminating knowledge and wisdom in genomic medicine

Genetics in Medicine Open, 2023, Vol.1 (1), p.100778, Article 100778

2023

Link zum Volltext

Verfügbarkeit prüfen

Exploring current challenges in the technologist workforce of clinical genomics laboratories

Genetics in Medicine Open, 2023, Vol.1 (1), p.100806, Article 100806

2023

Link zum Volltext

Verfügbarkeit prüfen

Response to Johansen Taber et al

Genetics in medicine, 2019-11, Vol.21 (11), p.2660-2661

2019

Link zum Volltext

Verfügbarkeit prüfen

Response to Knoppers et al

Genetics in medicine, 2019-10, Vol.21 (10), p.2403-2403

2019

Link zum Volltext

Verfügbarkeit prüfen

Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?

Genetics in medicine, 2015-11, Vol.17 (11), p.897-900

2015

Link zum Volltext

Verfügbarkeit prüfen

Balanced information about Down syndrome: What is essential?

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1246-1257

2011

Link zum Volltext

Verfügbarkeit prüfen

Screening for down syndrome in the United States: results of surveys in 2011 and 2012

Archives of pathology & laboratory medicine (1976), 2013-07, Vol.137 (7), p.921-926

2013

Link zum Volltext

Verfügbarkeit prüfen

Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update: A Position Statement of the American College of Medical Genetics and Genomics

Obstetrical & gynecological survey, 2017-01, Vol.72 (1), p.6-8

2017

Link zum Volltext

Verfügbarkeit prüfen

Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism

Prenatal diagnosis, 2002-12, Vol.22 (12), p.1076-1085

2002

Link zum Volltext

Verfügbarkeit prüfen

Genetics of Hypertension: What Is Next?

Current cardiovascular risk reports, 2015-02, Vol.9 (2), p.1, Article 1

2015

Link zum Volltext

Verfügbarkeit prüfen

Balanced Information About Down Syndrome: What Is Essential?

Obstetrical & gynecological survey, 2011-09, Vol.66 (9), p.547-549

2011

Link zum Volltext

Verfügbarkeit prüfen

Ethical and policy issues in genetic testing and screening of children

Pediatrics (Evanston), 2013-03, Vol.131 (3), p.620

2013

Link zum Volltext

Verfügbarkeit prüfen

Technical report: Ethical and policy issues in genetic testing and screening of children

Genetics in medicine, 2013-03, Vol.15 (3), p.234-245

2013

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 296

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(239)
Mit Volltextzugriff
(252)

Publikationsform

Sprache

Englisch
(296)
Japanisch
(39)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG)

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Maternal obesity, folate intake, and neural tube defects in offspring

Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Long Term Maintenance of Neural Tube Defects Prevention in a High Prevalence State

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

International Society for Prenatal Diagnosis Position Statement: cell free (cf)DNA screening for Down syndrome in multiple pregnancies

Prenatal serum screening for Down syndrome and neural tube defects in the United States: Changes in utilization patterns from 2012 to 2020

Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

On the launch of Genetics in Medicine Open: Disseminating knowledge and wisdom in genomic medicine

Exploring current challenges in the technologist workforce of clinical genomics laboratories

Response to Johansen Taber et al

Response to Knoppers et al

Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?

Balanced information about Down syndrome: What is essential?

Screening for down syndrome in the United States: results of surveys in 2011 and 2012

Noninvasive Prenatal Screening for Fetal Aneuploidy, 2016 Update: A Position Statement of the American College of Medical Genetics and Genomics

Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism

Genetics of Hypertension: What Is Next?

Balanced Information About Down Syndrome: What Is Essential?

Ethical and policy issues in genetic testing and screening of children

Technical report: Ethical and policy issues in genetic testing and screening of children

Suchergebnisse filtern